Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP.

Abstract

Spastic paraparesis is a very rare manifestation of prion diseases, occurring in both sporadic prion disease1 and inherited prion disease.2 The D178N mutation in the prion protein ( PRNP ) gene is associated with familial fatal insomnia (FFI) or familial Creutzfeldt-Jakob disease (fCJD),3 and in some cases, FFI and fCJD overlap.4,5 Herein, we describe a patient harboring the D178N mutation in PRNP with initially predominant spastic paraparesis. The authors are grateful to the patient's next of kin for consenting to this publication and to Dr. Rodrigo Bernaldo de Quirós in Spain. The authors are also grateful to Dr. Nicola Carrol in Edinburgh for performing allele analysis at codon 129.